Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.G135D
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SLC37A4

NM_001164277.2:p.G135D

Associated Papers

Structural insight into the glucose-6-phosphate transport by G6PT1 and inhibition mechanism of CGA.

Chen Q et al.

Science Advances, 2026

Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.

Xia Z et al.

Nature Communications, 2025

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.

Wang Z et al.

The Journal of International Medical Research, 2023

A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.

Xu Q et al.

Molecular Genetics & Genomic Medicine, 2021

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Skakic A et al.

Clinical Genetics, 2018

The SLC37 family of sugar-phosphate/phosphate exchangers.

Chou JY et al.

Current Topics in Membranes, 2014

The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.

Pan CJ et al.

Human Genetics, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."